Abstract
Modern concepts regarding mitochondrial encephalomyopathies (ME) are summarized. Utilizing recent techniques of molecular biology we studied some cases of ME referred to the Institute of Clinical Neurology of Milan University. With these techniques we demonstrated different mitochondrial DNA deletions either in patients' muscle or in culture.
MeSH terms
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Adolescent
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Adult
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Aged
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Aged, 80 and over
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Brain Diseases / enzymology
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Brain Diseases / genetics
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Brain Diseases / pathology*
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Chromosome Deletion*
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DNA, Mitochondrial / analysis*
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DNA, Mitochondrial / genetics
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Electron Transport Complex IV / analysis
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Family Health
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Humans
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Karyotyping
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Kearns-Sayre Syndrome / enzymology*
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Kearns-Sayre Syndrome / genetics
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Microscopy, Electron
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Middle Aged
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Mitochondria, Muscle / enzymology
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Mitochondria, Muscle / pathology*
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Muscular Diseases / enzymology
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Muscular Diseases / genetics
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Muscular Diseases / pathology*
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Ophthalmoplegia / enzymology*
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Pedigree
Substances
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DNA, Mitochondrial
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Electron Transport Complex IV